Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1250394819
rs1250394819
0.807 0.240 5 115616325 missense variant C/T snv 4.0E-06
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2007 2007